Neurodevelopmental disorders: 2022 update

Abstract: With a prevalence of 2-4% of the worldwide population, neurodevelopmental disorders (NDDs) comprise a heterogeneous group of disorders associated with neurodevelopmental dysfunction, including intellectual disability (ID), autism spectrum disorder (ASD), Down syndrome (DS) and attention-deficit/hyperactivity disorder (ADHD) among others. Last year, important steps in the mechanistic understanding of several NDDs have been achieved. New preclinical models demonstrated causality between PAK3 mutations and disorders associated with social deficiencies. ARID1B mutations have been linked to neuroectoderm specification in Coffin-Siris syndrome and DNA damage was established as an important pathologic mechanism in Aicardi- Goutières syndrome. Moreover, alterations in basic molecular processes including translation and histone acetylation have been established as major traits in the pathology of X-linked ID and Rett syndrome, revealing new pathogenetic mechanisms. Advances in bioinformatic.... https://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/3801

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Neurodevelopmental disorders: 2022 update ; volume:3 ; day:21 ; month:03 ; year:2022 ; Free Neuropathology ; 3 (21.03.2022)

Beteiligte, Orts- und Zeitangaben

• Urheber: Sabariego-Navarro, Miguel ; Fernández-Blanco, Alvaro ; Sierra, César ; Dierssen, Mara

Weitere Informationen

• DOI: 10.17879/freeneuropathology-2022-3801
• URN: urn:nbn:de:hbz:6:3-freeneuropathology-2022-39136
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 15.08.2025, 07:35 MESZ